Article
Developmental eye disorders.
Current opinion in genetics & development - 1 Jun 2005
Fitzpatrick David R, van Heyningen Veronica
Abstract excerpt
In developed countries, malformations of the eye are among the most common causes of serious visual impairment in newborns. The identification of pathogenic mutations in autosomal and X-linked transcription factors has advanced our understanding of the critical stages in human eye development and has begun to explain some unusual inheritance characteristics of these disorders. The functional characterisation of...
Topics
- Animals
- Body Patterning
- Eye Diseases
- Eye Proteins
- Homeodomain Proteins
- Humans
- Mutation
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Repressor Proteins